Canonical Allele Identifier: CA339845653

Gene: PPT1

Linked Data

• dbSNP Id: rs188477623
• MyVariant Identifiers: chr1:g.40539816G>C (hg19) ; chr1:g.40074144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074144G>C , CM000663.2:g.40074144G>C	GRCh38
NC_000001.10:g.40539816G>C , CM000663.1:g.40539816G>C	GRCh37
NC_000001.9:g.40312403G>C	NCBI36
NG_009192.1:g.28327C>G , LRG_690:g.28327C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.835C>G	ENSP00000394863.4:p.Leu279Val
ENST00000439754.6:c.766C>G	ENSP00000403207.2:p.Leu256Val
ENST00000449045.7:c.529C>G	ENSP00000392293.2:p.Leu177Val
ENST00000527311.7:c.607C>G	ENSP00000436695.3:p.Leu203Val
ENST00000530076.6:c.181C>G	ENSP00000434007.1:p.Leu61Val
ENST00000530704.6:c.*461C>G	ENSP00000431655.1:n.*461C>G
ENST00000641083.1:c.928C>G
ENST00000641236.1:n.1075C>G
ENST00000641319.1:c.*48C>G	ENSP00000493128.1:n.*48C>G
ENST00000641381.1:c.260C>G
ENST00000641471.1:c.925C>G	ENSP00000493146.1:p.Leu309Val
ENST00000641691.1:c.*690C>G	ENSP00000492910.1:n.*690C>G
ENST00000641924.1:c.*267C>G	ENSP00000493063.1:n.*267C>G
ENST00000642050.2:c.838C>G MANE Select	ENSP00000493153.1:p.Leu280Val
ENST00000372775.2:n.235C>G
ENST00000433473.7:c.838C>G	ENSP00000394863.3:p.Leu280Val
ENST00000439754.5:c.451C>G	ENSP00000403207.1:p.Leu151Val
ENST00000449045.6:c.529C>G	ENSP00000392293.2:p.Leu177Val
ENST00000527311.6:c.613C>G
ENST00000529905.5:c.838C>G	ENSP00000432053.1:p.Leu280Val
ENST00000530076.5:c.181C>G	ENSP00000434007.1:p.Leu61Val
ENST00000530704.5:c.*461C>G	ENSP00000431655.1:n.*461C>G
NM_000310.3:c.838C>G , LRG_690t1:c.838C>G	NP_000301.1:p.Leu280Val
NM_001142604.1:c.529C>G	NP_001136076.1:p.Leu177Val
XM_005271008.1:c.766C>G	XP_005271065.1:p.Leu256Val
NM_001363695.1:c.766C>G	NP_001350624.1:p.Leu256Val
NM_000310.4:c.838C>G MANE Select	NP_000301.1:p.Leu280Val
NM_001142604.2:c.529C>G	NP_001136076.1:p.Leu177Val
NM_001363695.2:c.766C>G	NP_001350624.1:p.Leu256Val